Results 71 to 80 of about 16,607 (189)
Synaptic GAP and GEF Complexes Cluster Proteins Essential for GTP Signaling
Scientific Reports, 2017 GTPase-activating proteins (GAPs) and guanine exchange factors (GEFs) play essential roles in regulating the activity of small GTPases. Several GAPs and GEFs have been shown to be present at the postsynaptic density (PSD) within excitatory glutamatergic ...
Brent Wilkinson +2 more
doaj +1 more source
Epilepsia, EarlyView.Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS. Methods We identified participants with highest (n = 59) versus lowest (n
Sophie von Brauchitsch +27 more
wiley +1 more source
A very rare case report with INF2 gene mutation related sporadic FSGS and response to treatment
NefrologíaFocal segmental glomerulosclerosis (FSGS) is classified into three forms: primary, secondary, and genetic FSGS. Genetic FSGS is defined as sporadic or familial types.
Kübra Kaynar +5 more
doaj +3 more sources
Epilepsia, EarlyView.Abstract The classification of the epilepsies has traditionally relied on clinical and electroencephalographic features. However, advancements in molecular genetics, neuroimaging, and our understanding of epilepsy pathophysiology necessitate a shift toward an etiology‐based approach.
Nicola Specchio +15 more
wiley +1 more source
A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+
, 2009 Familial febrile seizures occur in both generalized epilepsy with febrile seizures plus (GEFS+) and autosomal dominant febrile seizures (ADFS). The literature largely separates families with GEFS+ from those with ADFS. However, there is clinical overlap,
Ammar Al‐Chalabi +11 more
core +1 more source
Scn1a‐mediated developmental regulation of prefrontal cortex plasticity and cognition
Epilepsia, EarlyView.Abstract Objective The voltage‐gated sodium channel Nav1.1, encoded by Scn1a, is essential for γ‐aminobutyric acid (GABA)ergic function, and its alteration is associated with neurological disorders such as Dravet syndrome and Alzheimer's disease. We previously demonstrated that local Nav1.1 dysfunction in the medial prefrontal cortex (mPFC) during ...
Maurizio S. Riga +5 more
wiley +1 more source
, 2010 Rabs are GTP-binding proteins with conserved functions in membrane trafficking. They are regulated by a diverse group of structurally unrelated GDP-GTP exchange factors (GEFs), and a family of GTP-hydrolysis activating proteins (GAPs) containing the ...
Lambright, DG, Barr, F
core +1 more source